Molecular pathology selected abstracts
April 2023—Clonal hematopoiesis of indeterminate potential refers to the clonal expansion of hematopoietic stem cells that harbor a somatic mutation in people who do not exhibit hematological symptoms. This phenomenon is common in the elderly and associated with an increased risk of hematological malignancies, cardiovascular disease, infection, and all-cause mortality. Several somatic alterations are frequently detected in clonal hematopoiesis of indeterminate potential (CHIP), but the medical community’s understanding of the underlying genetic predisposition to CHIP is limited. The authors conducted a large-scale exome-sequencing study involving more than 600,000 people to characterize CHIP status and discover rare somatic variants and possible predisposing germline alterations. The prevalence of CHIP was 15 percent by 75 years of age, and the affected individuals were more likely to be heavy smokers, in agreement with previous studies.